Author

María Miranda

Universidad Pública de Navarra (UPNA)Primary ORCID profile (0000-0002-0817-553X · 2 papers)Unclaimed ORCID profile · follow to get notified of new preprints

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2020-2024 · peak 1/yr

10 top collaborators · 42 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ángel AlonsoORCID

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2 papers

The paper characterizes common genetic variants in the Navarre population, identifying 1,069 SNVs common in Navarre but rare in other populations.

Genes · May 4, 2024Peer-reviewedGenetic & Genomic Medicine

SMAca is a tool to detect SMA carriers and estimate SMN1 copy-number from NGS data using variant-specific knowledge, validated on 326 samples.

Human Mutation · Oct 14, 2020Peer-reviewedBioinformatics